Variant report

Variant	rs73997599
Chromosome Location	chr2:233741872-233741873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:
2	chr2:233741247..233743514-chr2:233891035..233893052,2	MCF-7	breast:
3	chr2:233739591..233745527-chr2:233747956..233752237,8	MCF-7	breast:
4	chr2:233741423..233744026-chr2:234158649..234161710,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs59535630	0.85[AFR][1000 genomes]
rs61580491	0.92[AFR][1000 genomes]
rs73997516	0.85[AFR][1000 genomes]
rs73997518	0.85[AFR][1000 genomes]
rs73997520	0.85[AFR][1000 genomes]
rs73997523	0.92[AFR][1000 genomes]
rs73997525	0.92[AFR][1000 genomes]
rs73997547	0.92[AFR][1000 genomes]
rs73997548	0.92[AFR][1000 genomes]
rs73997559	0.92[AFR][1000 genomes]
rs73997584	1.00[AFR][1000 genomes]
rs73997585	0.96[AFR][1000 genomes]
rs73997587	1.00[AFR][1000 genomes]
rs73997601	1.00[AFR][1000 genomes]
rs73999703	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3395649	chr2:233739733-233742581	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
2	chr2:233740000-233742000	Bivalent Enhancer	Placenta	Placenta
3	chr2:233740200-233742000	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr2:233740200-233742200	Enhancers	Fetal Brain Male	brain
5	chr2:233740200-233742400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr2:233740400-233742000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:233740400-233742000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:233740400-233742000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:233740400-233742000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:233740400-233742000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:233740400-233742000	Active TSS	Brain Angular Gyrus	brain
12	chr2:233740400-233742200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:233740400-233742200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:233740400-233742200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr2:233740400-233742400	Active TSS	Hela-S3	cervix
16	chr2:233740600-233742000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:233740600-233742000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:233740600-233742000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr2:233740600-233742000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:233740600-233742200	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:233740600-233742400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:233740600-233742400	Active TSS	A549	lung
23	chr2:233740800-233742000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:233740800-233742000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr2:233740800-233742000	Active TSS	Brain Hippocampus Middle	brain
26	chr2:233740800-233742200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:233740800-233742200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:233740800-233742200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:233740800-233742200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr2:233740800-233742600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:233741000-233742000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:233741000-233742000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:233741000-233742000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:233741200-233743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:233741400-233742000	Active TSS	Small Intestine	intestine
36	chr2:233741400-233742200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:233741400-233742200	Active TSS	Duodenum Mucosa	Duodenum
38	chr2:233741600-233742000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:233741600-233742000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:233741600-233742000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr2:233741600-233742000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
42	chr2:233741600-233742000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:233741600-233742000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:233741600-233742000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr2:233741600-233742000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr2:233741600-233742000	Enhancers	Lung	lung
47	chr2:233741600-233742200	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr2:233741600-233742400	Flanking Active TSS	Liver	Liver
49	chr2:233741600-233742400	Active TSS	Colonic Mucosa	Colon
50	chr2:233741600-233745000	Weak transcription	Muscle Satellite Cultured Cells	--

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